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C syndrome
Summary
- Synonym
-
- OTCS
- Opitz C trigonocephaly
- Opitz trigonocephaly C syndrome
- Opitz trigonocephaly syndrome
- trigonocephaly C syndrome
- Definition
- A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111581
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
